Reference health
The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
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66/66 checkable references clean · checked 2026-07-23
Every reference with a DOI in the deposited reference list resolved to a known work in Crossref or DataCite at the dated check, and none carried a retraction, withdrawal, or removal notice.
19 without a DOI — not checked. A reference deposited without a DOI is never matched by title or guessed at; it stays outside the checked set, and this line discloses that.
The 66 checked references that resolve
resolves10.1016/S0021-9258(17)42040-0
Functional expression cloning of the canalicular sulfate transport system of rat hepatocytes.
resolves10.1016/0304-4157(78)90016-3
The anion transport system of the red blood cell The role of membrane protein evaluated by the use of ‘probes’
resolves10.1136/jmg.30.10.857
Disease gene mapping in isolated human populations: the example of Finland.
resolves10.1093/nar/19.14.3907
A sequence assembly and editing program for efficient management of large projects
resolves10.1002/ajmg.1320490411
Abnormality of type IX collagen in a patient with diastrophic dysplasia
resolves10.1146/annurev.bb.15.060186.001541
IDENTIFYING NONPOLAR TRANSBILAYER HELICES IN AMINO ACID SEQUENCES OF MEMBRANE PROTEINS
resolves10.1016/S0021-9258(18)66778-X
Sulfate transport-deficient mutants of Chinese hamster ovary cells. Sulfation of glycosaminoglycans dependent on cysteine.
resolves10.1152/jappl.1981.50.2.383
Kinetics of sulfated mucous glycoprotein secretion in dog trachea in vitro
resolves10.1016/S0021-9258(18)43003-7
Co-polymeric glycosaminoglycans in transformed cells. Transformation-dependent changes in the self-associating properties of cell-surface heparan sulfate.
resolves10.1016/0092-8674(94)90322-0
Fusion of PDGF receptor β to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation
resolves10.1016/S0021-9258(17)38211-X
Glycosaminoglycan sulfotransferases of the developing chick cornea.
resolves10.1038/ng1192-204
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland
resolves10.1006/geno.1993.1253
Refined Assignment of the Infantile Neuronal Ceroid Lipofuscinosis (INCL, CLN1) Locus at 1p32: Incorporation of Linkage Disequilibrium in Multipoint Analysis
resolves10.1203/00006450-197908000-00007
Diastropic Dwarfism: a Histochemical and Ultrastructural Study of the Endochondral Growth Plate
resolves10.1203/00006450-198709000-00017
Achondrogenesis Type II, Abnormalities of Extracellular Matrix
resolves10.1016/S0021-9258(18)67626-4
Glycosaminoglycan production by bovine aortic endothelial cells cultured in sulfate-depleted medium.
resolves10.1016/0092-8674(93)90585-E
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
resolves10.1016/S0021-9258(19)68287-6
Altered proteoglycan synthesis by epiphyseal cartilages in culture at low SO4(2-) concentration.
resolves10.1016/0304-4165(87)90230-3
Amino acid sulfur as a source of sulfate for sulfated proteoglycans produced by Swiss mouse 3T3 cells
resolves10.1021/bi00221a008
Nucleotide sequence, messenger RNA stability, and DNA recognition elements of CYS-14, the structural gene for sulfate permease II in Neurospora crassa
resolves10.1007/BF00279537
Isolation and characterization of novel nodulin cDNAs representing genes expressed at early stages of soybean nodule development
resolves10.1007/BF00210743
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
resolves10.1016/0006-2952(81)90208-2
An evaluation of methods to decrease the availability of inorganic sulphate for sulphate conjugation in the rat in vivo
resolves10.1016/0006-2952(82)90646-3
The dependence of the rate of sulphate conjugation on the plasma concentration of inorganic sulphate in the rat in vivo
resolves10.1016/0022-2836(82)90515-0
A simple method for displaying the hydropathic character of a protein
resolves10.1093/hmg/2.8.1229
Localization of the <i>EPM1</i> gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping
resolves10.1093/hmg/2.11.1785
A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q
resolves10.1042/bj1820223
Sulphate-ion/sodium-ion co-transport by brush-border membrane vesicles isolated from rat kidney cortex
resolves10.1016/0016-5085(81)90185-2
Sulfate-sodium cotransport by brush-border membrane vesicles isolated from rat ileum
resolves10.1042/bj1760959
Metabolism of inorganic sulphate in the isolated perfused rat liver. Effect of sulphate concentration on the rate of sulphation by phenol sulphotransferase
resolves10.1016/0012-1606(81)90291-8
Brachymorphic mice (bm/bm): A generalized biochemical defect expressed primarily in cartilage
resolves10.1093/hmg/2.7.1007
Haplotype analysis to determine the position of a mutation among closely linked DNA markers
resolves10.1126/science.2475911
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
resolves10.1016/0092-8674(88)90224-3
Tandem linkage of human CSF-1 receptor (c-fms) and PDGF receptor genes
resolves10.1083/jcb.98.3.946
Structure and properties of an under-sulfated heparan sulfate proteoglycan synthesized by a rat hepatoma cell line.
resolves10.1016/S0021-9258(17)42643-3
Sodium-dependent transport of inorganic sulfate by rabbit renal brush-border membrane vesicles. Effects of other ions.
resolves10.1007/BF00334495
Light and electron microscopic abnormalities in diastrophic dysplasia growth cartilage
resolves10.1007/BF01870981
Active sulfate absorption in rabbit ileum: Dependence on sodium and chloride and effects of agents that alter chloride transport
resolves10.1016/S0021-9258(17)34598-2
Effect of environmental sulfate concentration on the synthesis of low and high sulfated chondroitin sulfates by chick embryo cartilage.
resolves10.1002/ajmg.1320510106
Non‐collagenous protein screening in the human chondrodysplasias: Link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin
resolves10.1093/genetics/137.4.1139
Fluctuation tests: how reliable are the estimates of mutation rates?
resolves10.1016/0003-9861(82)90064-9
Defect in 3′-phosphoadenosine 5′-phosphosulfate synthesis in brachymorphic mice
resolves10.1016/0003-9861(82)90065-0
Defect in 3′-phosphoadenosine 5′-phosphosulfate synthesis in brachymorphic mice
resolves10.1038/ng0493-338
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis
resolves10.1139/y92-113
Conserved charge of glomerular and mesangial cell proteoglycans: possible role of amino acid-derived sulphate
resolves10.1002/jor.1100070504
The effect of low sulfate concentrations on the glycosaminoglycan synthesis in anatomically intact articular cartilage of the mouse
resolves10.1016/S0021-9258(18)34733-1
Analysis of the transport system for inorganic anions in normal and transformed hepatocytes.
The 19 references without a DOI — listed, not checked
no DOI — not checkedFamilial Mediterranean fever (FMF) in Moroccan Jews: demonstration of a founder effect by extended haplotype analysis
no DOI — not checkedFriedreich's disease: a linkage study in southern and central Italy
no DOI — not checkedThe effect of salicylate on anatomically intact articular cartilage is influenced by sulfate and serum in the culture medium
no DOI — not checkedSulfation by human lung fibroblasts: SO4−2 and sulfur-containing amino acids as sources for macromolecular sulfation
no DOI — not checkedMolecular heterogeneity of proteoglycan aggregates of human hyalin cartilage in normal conditions and in systematic bone dysplasia
no DOI — not checkedNucleotide sequence and structural organization of the human FMS proto-oncogene
no DOI — not checkedDiastrophic dysplasia gene maps to the distal long arm of chromosome 5
no DOI — not checkedDystonia-Parkinsonism syndrome (XDP) locus: flanking markers in Xq12-q21. 1
no DOI — not checkedLe nanisme diastrophique
no DOI — not checkedMapping complex genetic traits in humans: new methods using a complete RFLP linkage map
no DOI — not checkedExpression cloning of rat renal Na+SO42 cotransport
no DOI — not checkedLocalization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis
no DOI — not checkedImproved tools for biological sequence comparison
no DOI — not checked10.1016/0092-8674(94)90281-X_BIB61
no DOI — not checkedUptake and accumulation of inorganic sulfate in isolated hepatocytes and the correlation to initial rate of sulfates
no DOI — not checkedIdentification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas
no DOI — not checkedAchondroplasia in humans
no DOI — not checkedFriedreich ataxia in Louisiana Acadians: demonstration of a founder effect by analysis of microsatellite-generated extended haplotypes
no DOI — not checkedDefect in 3′-phosphoadenosine 5′-phosphosulfate formation in brachymorphic mice
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